A CASE WITH EMANUEL SYNDROME:
EXTRA DERIVATIVE 22 CHROMOSOME
INHERITED FROM THE MOTHER
İkbal Atli E*, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H
*Corresponding Author: Emine İkbal Atli, Ph.D., Department of Medical Genetics, Faculty of Medicine,
Trakya University, Campus Of Balkan, D100 Street, Edirne 22030, Turkey. Tel: +90-554-253-4030. Fax: +90-
284-223-4201. E-mail: emine.ikbal@gmail.com
page: 77
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Abstract
Emanuel syndrome (ES) is a rare chromosomal
disorder that is characterized by multiple congenital
anomalies and developmental disabilities. Affected
children are usually identified in the newborn period
as the offspring of balanced (11;22) translocation
carriers. Carriers of this balanced translocation usually
have no clinical symptoms and are often identified
after the birth of offspring with an unbalanced
form of the translocation, the supernumerary der(22)
t(11;22) syndrome. We report a 3-year-old boy with
the t(11;22)(q23;q11) chromosome, transmitted in
an unbalanced fashion from his mother. He has several
developmental delays; he is not independently
ambulatory and language is significantly impaired.
Using his peripheral blood, karyotyping was performed
to define his multiple congenital anomalies,
revealing the following chromosomal abnormality:
47,XY,+der(22)t(11;22)(q23.3;q11.2). To ascertain
the origin and trait of this supernumerary marker
chromosome [der(22)t(11;22)(q23.3;q11.2)], karyotyping
of his parents was performed. The mother
was found to be a balanced carrier: 46,XX,t(11;22)
(q23.3; q11.2).
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